Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.780 SusceptibilityMutation CLINVAR
dbSNP: rs137852602
rs137852602
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555507411
rs1555507411
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
G 0.700 CausalMutation CLINVAR
dbSNP: rs771073292
rs771073292
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
A 0.700 CausalMutation CLINVAR
dbSNP: rs863223293
rs863223293
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
A 0.700 CausalMutation CLINVAR
dbSNP: rs372826934
rs372826934
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease:
Bare lymphocyte syndrome 2
A 0.700 CausalMutation CLINVAR Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 8402893 1993
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC class II transactivator (MHC2TA) gene is associated with manifestation of rheumatoid arthritis, multiple sclerosis, narcolepsy and Wegener granulomatosis. 16426246 2006
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC class II transactivator (MHC2TA) gene is associated with manifestation of rheumatoid arthritis, multiple sclerosis, narcolepsy and Wegener granulomatosis. 16426246 2006
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0004364
Disease:
Autoimmune Diseases
0.030 GeneticVariation BEFREE Promoter polymorphism rs3087456 in the MHC class II transactivator gene is not associated with susceptibility for selected autoimmune diseases in German patient groups. 16426246 2006
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0004364
Disease:
Autoimmune Diseases
0.030 GeneticVariation BEFREE The MHC2TA -168 A-->G single nucleotide polymorphism (rs3087456) has been suggested to confer susceptibility to some autoimmune diseases. 16849401 2006
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0027404
Disease:
Narcolepsy
0.010 GeneticVariation BEFREE We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC class II transactivator (MHC2TA) gene is associated with manifestation of rheumatoid arthritis, multiple sclerosis, narcolepsy and Wegener granulomatosis. 16426246 2006
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction in a northern European population. 17012290 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE MHC2TA promoter polymorphism (-168*G/A, rs3087456) is not associated with susceptibility to rheumatoid arthritis in British Caucasian rheumatoid arthritis patients. 16920747 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction in a northern European population. 17012290 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction in a northern European population. 17012290 2007
dbSNP: rs151317882
rs151317882
Entrez Id: 4261;112267907
Gene Symbol: CIITA;LOC112267907
CIITA;LOC112267907
CUI: C0019340
Disease:
Herpes NOS
0.010 GeneticVariation BEFREE Two polymorphisms in MHC2TA gene (rs4,774G/C and rs3,087,456A/G) were studied in two groups: one in 22 multiple sclerosis patients with active human herpes virus 6 (HHV-6A) replication (HHV-6A-positive), and the other of 77 patients with no detectable HHV-6A active infection (HHV-6A-negative); a Spanish healthy control group (n = 520) was also included as external control. 17678724 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE This particular polymorphism rs3087456 of the MHC2TA gene does not appear to influence genetic susceptibility to SLE in the Swedish population. 17711409 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0019340
Disease:
Herpes NOS
0.010 GeneticVariation BEFREE Two polymorphisms in MHC2TA gene (rs4,774G/C and rs3,087,456A/G) were studied in two groups: one in 22 multiple sclerosis patients with active human herpes virus 6 (HHV-6A) replication (HHV-6A-positive), and the other of 77 patients with no detectable HHV-6A active infection (HHV-6A-negative); a Spanish healthy control group (n = 520) was also included as external control. 17678724 2007
dbSNP: rs4774
rs4774
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C0019340
Disease:
Herpes NOS
0.010 GeneticVariation BEFREE Two polymorphisms in MHC2TA gene (rs4,774G/C and rs3,087,456A/G) were studied in two groups: one in 22 multiple sclerosis patients with active human herpes virus 6 (HHV-6A) replication (HHV-6A-positive), and the other of 77 patients with no detectable HHV-6A active infection (HHV-6A-negative); a Spanish healthy control group (n = 520) was also included as external control. 17678724 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE Our results indicate that the MHC2TA -168A/G polymorphism (rs3087456) is not associated with RA yet underscore the importance of including shared epitope allele carrier status, secondary phenotypes and more complete characterisation of MHC2TA variation in future studies. 17875550 2008
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE A promoter SNP -168A→G (rs3087456) has previously been shown to be associated with susceptibility to several immune mediated disorders, including rheumatoid arthritis (RA), multiple sclerosis (MS) and myocardial infarction (MI). 20942939 2010
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE A promoter SNP -168A→G (rs3087456) has previously been shown to be associated with susceptibility to several immune mediated disorders, including rheumatoid arthritis (RA), multiple sclerosis (MS) and myocardial infarction (MI). 20942939 2010
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE In addition, the -168A/G CIITA promoter variant (rs3087456) has been reported to be associated with MS. 20211854 2010
dbSNP: rs4774
rs4774
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C0026769
Disease:
Multiple Sclerosis
0.030 GeneticVariation BEFREE Rs4774 (missense +1614G/C; G500A) was associated with MS (P = 4.9 x 10(-3)), particularly in DRB1*1501 +individuals (P = 1 x 10(-4)). 20211854 2010
dbSNP: rs4774
rs4774
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C0026769
Disease:
Multiple Sclerosis
0.030 GeneticVariation BEFREE Rs4774 (missense +1614G/C; G500A) was associated with MS (P = 4.9 x 10(-3)), particularly in DRB1*1501 +individuals (P = 1 x 10(-4)). 20211854 2010